Mutations in chromosomes, i.e. translocations or insertions – although in a given person most often do not cause health problems – can increase significantly the risk of serious defects in his or her children. Preimplantation diagnosis (PGD) carried out in the framework of in vitro program gives patients the chance of healthy pregnancy. Next Generation Sequencing (NGS) is currently thought to be the most reliable method in testing of this type. INVICTA Genetic Laboratory was the first in the world to introduce it into the clinical practice with PGD. Recently, the facility once more confirmed the quality of provided results in the international External Quality Assessment.
The preimplantation diagnosis assessment program has been carried out for several years by two prestigious organizations UK NEQAS (United Kingdom National External Quality Assessment Service) and CEQAS (Cytogenomic External Quality Assessment Service). 44 genetic laboratories from the whole world participated in its latest edition dedicated to structural anomalies in chromosomes. Only 14 of them used the modern NGS technology for the purposes of preimplantation diagnosis.
The participants of the assessment were given six samples for testing; the samples were connected with three different anomalies: (a) insertion, (2) reciprocal balanced translocation and (3) Robertsonian translocation. With innovative solutions, i.e. NGS, we can detect genetic changes in an embryo in high resolution, from 4-5 million base pairs. However, for the proper performance of the process of material analysis and interpretation of obtained data, extensive knowledge and experience of the personnel is required. Also, the appropriate application of diagnostic tools is of key importance. For us, the participation in the assessment is the occasion to prove that we perform tests at world-class level – says Sebastian Pukszta, PhD in Biology, from INVICTA Genetics Laboratory. The quality assessment of provided results took into account the aspects relating to proper analysis/genotyping, interpretation and formal correctness. The guidelines for carrying out the procedure complied with the requirements of the strict norm, ISO 15189.
INVICTA Genetic Laboratory, as one of 5 facilities among 44 participating in the program, obtained the maximum number of points for each of the criteria taken into account. We are very proud of this result. It is the best confirmation of the high quality and reliability of our diagnosis. It is also the signal that we are developing in the right direction, and we are able to offer our patients effective assistance – adds Doctor Pukszta.
The INVICTA Genetic Laboratory has been on the market for more than 11 years, offering a wide range of genetic tests. The facility specializes in diagnosis dedicated to infertile couples and couples who experience recurrent miscarriages; as well as in preimplantation diagnosis – including for chromosomal aberrations and single gene mutations. Currently, it is the only facility in Poland which carries out its own genetic embryo testing with the use of NGS technology. Moreover, the Laboratory Team carries out scientific projects in the field of clinical genetics and genetic diagnosis. Results of such projects include numerous publications in Polish and international research papers.